OBJECTIVE: To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography. METHODS: Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH). RESULTS: The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation. CONCLUSION CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.
Pregnancy ; Female ; Humans ; Cri-du-Chat Syndrome ; In Situ Hybridization, Fluorescence ; DNA Copy Number Variations ; Prenatal Diagnosis ; Fetus ; Amniotic Fluid ; Chromosome Deletion

Objective:To investigate the current status of hospitalized neonatal death of different gestational ages in Shaanxi Province.Methods:All neonatal deaths in six hospitals in Shaanxi Province from 2016 to 2020 were retrospectively analyzed, and the differences in perinatal complications, the causes of death, and the age at death were compared using Chi-square (or Fisher's exact ) test. Results:(1) Totally, 220 488 neonates were delivered in the obstetric department of the six hospitals during the study period; 71 782 out of them were admitted to the neonatal department. While 424 neonatal death was reported, giving the total hospitalized neonates mortality rate of 5.5‰ (394/71 782), which included 152 deaths of transferred patients ( n=9 103, 16.7‰), 226 premature (53.3%), 196 term (46.2%), and two post-term infants (0.5%). (2) Among mothers of dead neonates, 73.6% were found to have at least one perinatal complication. The most common one was fetal distress (146 cases, 34.4%), followed by gestational diabetes mellitus (113 cases, 26.7%), amniotic fluid abnormalities ( n=73, 17.2%), maternal infectious diseases ( n=71, 16.8%), and hypertensive disorders in pregnancy (HDP) ( n=52, 12.3%). The lower the gestational age, the higher the proportion of multiple pregnancies and assisted reproduction technology applied (Fisher exact test, P<0.05). On the contrary, the higher the gestational age, the higher the cesarean section rate ( χ 2=26.69, P<0.001). HDP was more likely to occur in the gestational age of 28-31 +6 and 32-34 +6 weeks ( χ 2=37.16, P<0.001), and amniotic fluid abnormalities were more likely to occur in those over 37 weeks ( χ 2=27.47, P<0.001). (3) The five leading causes of neonatal death were neonatal respiratory distress syndrome (NRDS, n=100, 23.6%), neonatal asphyxia ( n=88, 20.8%), maternal infectious diseases ( n=80, 18.9%), and birth defects ( n=54, 12.7%), and pulmonary hemorrhage ( n=22, 5.2%). The first three causes of death in term and post-term infants were neonatal asphyxia ( n=65, 32.8%), birth defects ( n=42, 21.2%), and infectious diseases ( n=26, 13.1%). NRDS ( n=83, 36.7%), infectious diseases ( n=54, 23.9%), and neonatal asphyxia ( n=23, 10.2%) were the three leading causes of death of premature babies. (4) Out of the 326 (76.9%) neonatal deaths within seven days after birth, 162 (38.2%) died within 24 h after birth and 164 cases (38.7%) between one to seven days after birth. Conclusions:Most neonatal deaths occurred among preterm ones and within seven days after birth, whose mothers suffered perinatal complications. The causes of neonatal death vary among different gestational age groups.

Radiotherapy is an important treatment of gynecological tumors. Although novel techniques or measures in recemy years have improved the tumor control rate and reduced radiation toxicity, radiation toxicity remains a major problem due to the location of some key organs adjacent to the tumor. A new material-hydrogel, as an organ spacer, provides a new method to reduce the radiotherapy toxicity. In this article, the application of hydrogel as an organ spacer in brachytherapy for gynecological tumors was reviewed from the aspects of hydrogel characteristics, suitable population, mode of injection, interval distance and dose effect, clinical benefits and cost effectiveness, etc.

Objective:To study the strategies in the diagnosis and treatment of pancreatic tumors in children.Methods:The clinical data of 18 children with pancreatic tumor managed at the Children's Hospital Affiliated to Chongqing Medical University from March 2015 to September 2020 were retrospectively studied. There were 8 males and 10 females, age ranged from 3 months to 14 years and 11 months, with a median age of 8 years and 2 months. Clinical data including age, gender, pathological data, surgical methods, chemotherapy, tumor location and treatment outcomes were collected. Follow-up was conducted by outpatient visits and by telephone.Results:Abdominal ultrasound, enhanced CT and/or MRI examinations were performed on all these patients, with findings of either a cystic or solid lesion of pancreas. All patients were treated by laparotomy under endotracheal intubation and general anesthesia. The operations were all completed successfully. Among the 18 patients, there were 11 patients with solid pseudopapillary tumors and 7 patients with pancreatoblastoma (PBL). The tumors were located in the head of the pancreas in 13 patients (including 3 patients who underwent pancreaticoduodenectomy, 1 patient who underwent resection of the head of the pancreas with preservation of the duodenum, and 9 patients who underwent resection of the tumors). The tumors were located in the body and tail of the pancrease in 5 patients (including 3 patients who underwent resection of the body and tail of the pancreas with preservation of spleen, and 2 patients who underwent resection of tumors). Because of huge tumors, 1 patient had bilateral lung, left supraclavicular fossa lymph node and retroperitoneal lymph node metastasis, 3 patients were confirmed to have PBL by biopsy, and these tumors were resected completely after neoadjuvant chemotherapy. Postoperative pathology showed that all the 3 patients had PBL and were given systematic chemotherapy. Postoperative pancreatic fistula occurred in 1 patient and chylous fistula in another patient, both were discharged home successfully after conservative treatments. All patients were followed-up for 2-7 years, and all children were tumor-free.Conclusion:It is not difficult to diagnose pediatric pancreatic tumors by ultrasound, CT and MRI before operation, and postoperative pathology was needed to confirm the diagnosis. Function-preserving surgical resection was the treatment of choice for pancreatic tumors in children.

Objective:To investigate the impact of carbon based non-conductive sliding rails on intensity-modulated radiation therapy (IMRT) planning for vertebral tumors.Methods:A reconstruction imaging of the couch plate and its rails removed from the EDGE linear accelerator was acquired by helical computed tomography (CT), and pushed into the treatment planning system (TPS). Based on CT images of homogeneous phantom and patients in our database, 6 and 10 MV photon IMRT plans were designed with five fields (180°, 200°, 220°, 160°, 140°), setting a prescribed dose of 3 Gy/F ×10 F to the planning target volume (PTV), and the dose was calculated by AcruosXB. In addition, optimization plans (OP) without rails and with rails symmetrically moving (4-19 cm, step size 1 cm) were created and verification plans(VP) were created by inserting and removing slide rail′s structure from the corresponding OP in VP. The differences in mean dose ( Dmean), homogeneity index (HI), and conformability index (CI) of the PTV, and maximum dose ( Dmax) of the spinal cord were compared and analyzed between the VP and OP. Results:HI of PTV with and without the rails were worse in the 6/10 MV verification plans, with a maximum difference of 2%. In 6 MV plans, with rails Dmean of PTV decreased by (2.07±0.99)%, CI increased by (4.91±3.12)%, and Dmax of spinal cord decreased by (1.83±1.37)%. Without rails, the Dmean of PTV increased by (2.02±0.96)%, but CI decreased by (3.07±1.31)% and Dmax of the spinal cord increased by (2.03±1.44)% in the patient respectively. There were significant statistical differences between groupswith and without rails( F=27.55, 361.32, 13.05, P<0.05). The target volume Dmean and spinal cord Dmax decreased with a sloping " W" with the change of the rail position. The difference appeared to be noticeable in the range of less than 10 cm, but it gradually decreased as the rails slid to the outside until it reached zero, and the Dmean of PTV and Dmax of the spinal cordchanges were less in 10 MV plans, comparing to 6 MV plans. Conclusions:The dose attenuation by the sliding rails of the Qfix kVue should not ignored in the IMRT of spinal metastases and the slide position should be consistent with the planned position.

Glioblastoma multiforme (GBM) in the central nervous system is the most lethal advanced glioma and currently there is no effective treatment for it. Studies of sinomenine, an alkaloid from the Chinese medicinal plant,

Objective:To investigate the relations of serum hypoxia inducible factor 2α (HIF-2α) and miR-21 expressions with cerebral vasospasm in patients with aneurysmal subarachnoid hemorrhage (aSAH) after interventional embolization.Methods:One hundred and seventy-four patients with aSAH underwent interventional embolization in our hospital from October 2017 to June 2019 were prospectively selected. DSA examination was performed 4 d after surgery, and severity of cerebral vasospasm was evaluated. Enzyme-linked immunosorbent assay was used to detect the level of serum HIF-2α and reverse transcription-PCR was employed to detect the serum miR-21 expression before and 3 and 7 d after interventional embolization. The clinical data and changes of serum HIF-2α and miR-21 expressions in patients with different degrees of cerebral vasospasm were compared. Correlation analysis was performed to analyze the relation of HIF-2α expression with miR-21 expression 3 and 7 d after interventional embolization. Receiver operating characteristics curve was used to analyze the diagnostic values of serum HIF-2α and miR-21 levels in cerebral vasospasm 3 d after interventional embolization.Results:There were 100 patients without vasospasm, and 20, 38 and 16 patients with mild, moderate and severe cerebral vasospasm, respectively. The serum levels of HIF-2α and miR-21 in patients with mild, moderate and severe cerebral vasospasm increased successively 3 and 7 d after interventional embolization, with significant differences ( P<0.05). Positive correlation was noted between expressions of HIF-2α and miR-21 in serum 3 and 7 d after interventional embolization ( P<0.05). Area under the curve (AUC) of HIF-2α in diagnosis of cerebral vasospasm was 0.748 ( 95%CI: 0.615-0.883, P=0.000) 3 d after interventional embolization. AUC of serum miR-21 level in diagnosis of cerebral vasospasm was 0.715 ( 95%CI: 0.590-0.842, P=0.000). AUC of serum HIF-2α combined with miR-21 in diagnosis of cerebral vasospasm was 0.893 ( 95%CI: 0.792-0.985, P=0.000). When diagnostic critical points of HIF-2α and miR-21 were 82.75 pg/mL and 1.15, the sensitivity, accuracy and negative predictive value of HIF-2α combined with miR-21 in the diagnosis of cerebral vasospasm were higher than those of HIF-2α or miR-21 alone. Conclusion:The expressions of serum HIF-2α and miR-21 in patients with aSAH after interventional embolization can effectively predict the occurrence of cerebral vasospasm, and may be involved in the occurrence and development of cerebral vasospasm.

Objective:To monitor and evaluate in vivo dose changes of intensity-modulated radiotherapy (IMRT) in patients with cervical cancer in a real-time manner. Methods:Twelve patients with cervical cancer admitted to our hospital were enrolled in this study. The in vivo doses were monitored by PerFRACTION?. Electronic portal imaging device (EPID) were collected in each treatment fraction for two-dimensional in vivo dose verification[γ index and dose difference (DD) index]. Log files were recorded for three-dimensional in vivo dose verification (γ index). The correlation between in vivo dose and treatment duration was analyzed by Pearson correlation analysis. Results:A total of 206 sets of EPID images and corresponding Log files were collected. The three-dimensional in vivo dose verification γ 1%/1mm of all patients was not correlated with treatment fraction ( P>0.05). Among them, the absolute difference of γ 1%/1mm of 94.66% fractions was< 1%. The mean DD 3% of two-dimensional in vivo dose verification of all patients was negatively correlated with treatment fraction ( P<0.05). Among which, the average γ 3%/3mm of 9 patients was>89% in the treatment fractions, and the average γ 3%/3mm of 98.57% fractions of these 9 patients was>93%. The other 3 patients had an average γ 3%/3mm ranged from 38% to 100%. CBCT images showed that the bladder volume of these 3 patients was significantly decreased with the relative changes by 82.08%, 84.41% and 73.59%, respectively, and the target area was retracted significantly with the relative changes by 38.12%, 59.79% and 24.46%, respectively. Conclusion:Combined with γ index and DD index, PerFRACTION? can monitor the mechanical stability of accelerator and MU delivery accuracy during treatment fractions, and monitor the changes of in vivo dose in patients with cervical cancer, which can improve the safety and quality assurance of IMRT for cervical cancer patients and provide guidance for patients with adaptive radiotherapy.

0bjective To explore the effect of brain health education on therapeutic adherence of hypertensive patients with subjective memory complaints based on health belief model. Methods A randomized controlled trial was designed in this study. eligible patients were selected from a community health service center in Chongqing were randomly assigned to intervention group (56 cases) and control group (60 cases). The control group received routine community health services and the intervention group received brain health education on the basis of the control group. statistical analysis was performed on the patients' dementia risk control belief, therapeutic adherence, and blood pressure control rate at baseline, after the group intervention, and after the individualized telephone intervention. Results There was a significant group× time interaction(F 交互=12.353, 22.376, P<0.05) on dementia risk control belief and therapeutic adherence (P<0.05),. The dementia risk control belief score, the therapeutic adherence and the blood pressure control rate in the intervention group was (98.74±13.62), (119.26±4.93) points and 70.0% , the control group was (85.00 ± 12.80), (106.48 ± 10.33) points and 50.0% after the intervention; the intervention group was higher than the control group (t=5.194, t=7.899, χ2=4.167, P<0.05). The subjects were rated at 4 points and above for each item of satisfaction with the project after the intervention. Conclusions Brain health education based on health belief model in hypertensive patients with subjective memory complaints, can effectively improve the dementia risk control belief and therapeutic adherence, and promote the self-management of blood pressure control.

Objective To evaluate the clinical application of Catalyst system in patient positioning during breast cancer radiotherapy,and to analyze its correlation with age and body mass index (BMI).Methods Twenty-four patients with breast cancer who were admitted to our hospital from May to August,2016 were enrolled as subjects.For all patients,auxiliary positioning was made by the optical surface imaging system (CRad Catalyst) before each treatment.The kV-kV imaging was executed weekly to verify positioning.Age,BMI,and setup errors of the two systems in the anterior-posterior (AP),superior-inferior (SI),and left-fight (LR) directions were recorded and analyzed by independent samples t-test and Pearson correlation analysis.Results The C-Rad Catalyst system had a significantly larger setup error in the AP direction than the kV-kV imaging (0.22±0.17 vs.0.18±0.13 cm,P＜0.05).There were no significant differences in setup errors in the SI or LR direction between the two systems (0.23±0.18 vs.0.19±0.15 cm,P＞0.05;0.28±0.28 vs.0.20±0.15 cm,P＞ 0.05).Age and BMI of patients had significant impacts on the C-Rad Catalyst system but the kV-kV imaging (P＞0.05):there were significant differences in setup errors in the AP and SI directions between patients ≤44 years of age and those 45-59 years of age (all P＜0.05);there were significant differences in setup errors in the AP and LR directions between patients ≤44 years of age and those ≥60 years of age (all P＜0.05);there was a significant difference in setup error in the LR direction between patients 45-59 years of age and those ≥ 60 years of age (P＜0.05);there was a significant difference in setup error in the SI direction between patients with BMIs of＜ 25 and ≥ 25 kg/m2 (P＜ 0.05).For patients ≥ 60 years of age,setup error of the C-Rad Catalyst system in the SI direction was correlated with age (r=-0.496,P＜0.05).For patients with BMI of＜25 kg/m2,setup error of the C-Rad Catalyst system in the AP direction was correlated with BMI (r=-0.445,P＜ 0.05).For patients with a BMI of ≥ 25 kg/m2,setup error of the C-Rad Catalyst system in the SI direction was correlated with BMI (r=-0.252,P＜0.05).Conclusions There is significant difference in setup error in the AP direction between the C-Rad Catalyst system and the kV-kV imaging.Age and BMI have impacts on patient positioning by the C-Rad Catalyst system.